Related gene-specific medical variations for Gene (Select 1124) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068173	NM_004067.4(CHN2):c.91T>C (p.Tyr31His)	CHN2 (Y16H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3065517	NM_004067.4(CHN2):c.1381A>G (p.Ile461Val)	CHN2, PRR15-DT (I221V +12 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuropathy, congenital hypomyelinating, 2	GUncertain significance
Select item 3060363	NM_004067.4(CHN2):c.1269T>C (p.Asn423=)	CHN2, PRR15-DT	Single nucleotide variant (non-coding transcript variant +2 more)	CHN2-related disorder	GBenign
Select item 3051277	NM_001398427.1(CHN2):c.-442T>C	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 3041465	NM_004067.4(CHN2):c.-6G>A	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 3040110	NM_001398427.1(CHN2):c.-646G>A	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GBenign
Select item 3039915	NM_001398427.1(CHN2):c.-501-8C>T	CHN2, CPVL	Single nucleotide variant (intron variant)	CHN2-related disorder	GBenign
Select item 3035343	NM_001398427.1(CHN2):c.-511T>G	CPVL, CHN2	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GBenign
Select item 3029181	NM_001398427.1(CHN2):c.-601C>T	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 2604865	NM_004067.4(CHN2):c.1288G>A (p.Val430Met)	CHN2, PRR15-DT (V190M +12 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2553513	NM_004067.4(CHN2):c.17A>C (p.Asn6Thr)	CHN2, CPVL (N6T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373648	NM_004067.4(CHN2):c.1249G>A (p.Glu417Lys)	CHN2, PRR15-DT (E177K +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1801400	NM_004067.4(CHN2):c.88+5444_88+5482del	CHN2	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1801399	NM_004067.4(CHN2):c.49+68970_49+69013del	CHN2	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 776213	NM_004067.4(CHN2):c.1312C>T (p.Pro438Ser)	CHN2, PRR15-DT (P211S +12 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 563338	GRCh37/hg19 7p14.3(chr7:29208774-29538994)x3	CHN2	Copy number gain	not provided	GUncertain significance
Select item 395624	GRCh37/hg19 7p14.3(chr7:29253743-29522760)x3	CHN2	Copy number gain	See cases	GUncertain significance
Select item 221823	GRCh37/hg19 7p14.3(chr7:29209361-29535998)x3	CHN2	Copy number gain	Premature ovarian failure	GBenign